Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure. The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.
• Case Patient :
• with nephronophthisis or ciliopathy with known genetic diagnosis or not
• signed the Informed consent form (patient or legal guardians if minor/incapable major)
• no limit of age, this patients could be recruited from the birth
• social insurance affiliation
• Healthy related individual :
• related with a included patient (father, mother, brother, sister)
• signed the Informed consent form (major or legal guardians if minor/incapable major)
• no limit of age, this patients could be recruited from the birth
• social insurance affiliation
• Negative Control patient :
• without chronic renal failure
• signed the Informed consent form (major or legal guardians if minor/incapable major)
• no limit of age, this patients could be recruited from the birth
• social insurance affiliation
• Positive Control patient :
• with chronic renal failure not related with a ciliary dysfunction
• signed the Informed consent form (major or legal guardians if minor/incapable major)
• no limit of age, this patients could be recruited from the birth
• social insurance affiliation